Table 3.
Monogenic Mendelian disorders associated with increased risk of glioma53
| Gene (chromosome location) | Disorder/Syndrome | Mode of Inheritance | Phenotypic Features | Associated Gliomas |
|---|---|---|---|---|
| NF1 (17q11.2) | Neurofibromatosis 1 | Dominant | Neurofibromas, schwannomas, café-au-lait macules | Astrocytoma, optic nerve glioma |
| NF2 (22q12.2) | Neurofibromatosis 2 | Dominant | Acoustic neuromas, meningiomas, neurofibromas, eye lesions | Ependymoma |
| TSC1,TSC2 (9q34.14,16p13.3) | Tuberous sclerosis | Dominant | Development of multisystem nonmalignant tumors | Giant cell astrocytoma |
| MSH2,MLH1, MSH6,PMS2 | Lynch syndrome | Dominant | Predisposition to gastrointestinal, endometrial, and other cancers | Glioblastoma, other gliomas |
| TP53 (17p13.1) | Li–Fraumeni syndrome | Dominant | Predisposition to numerous cancers, especially breast, brain, and soft-tissue sarcoma | Glioblastoma, other gliomas |
| p16/CDKN2A (9p21.3) | Melanoma-neural system tumor syndrome | Dominant | Predisposition to malignant melanoma and malignant brain tumors | Glioma |
| IDH1/IDH2 (2q33.3/15q26.1) | Ollier disease/Maffucci syndrome | Acquired postzygotic mosaicism; dominant with reduced penetrance | Development of intraosseous benign cartilaginous tumors, cancer predisposition | Glioma |
Abbreviations: MLH1, mutL homolog 1; MSH2/MSH6, mutS homolog 2/6; NF1/NF2, neurofibromin 1/2; PMS2, postmeiotic segregation increased 2; TSC1/TSC2, tuberous sclerosis 1/2.